Isolated Right Ventricular Non-compaction as a Cause of Death in Cornelia de Lange Syndrome

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S64-S65
Author(s):  
B I Youssef ◽  
M Zayko ◽  
E Gertsen
Keyword(s):  
Right Ventricular ◽  
White Male ◽  
Ventricular Myocardium ◽  
Multiple Organ ◽  
Cornelia De Lange Syndrome ◽  
First Case ◽  
Organ Systems ◽  
Endocardial Fibrosis ◽  
History Of ◽  
Cornelia De Lange

Abstract Introduction/Objective We report the case of a 32-year-old white male with a past medical history of bipolar disorder, autistic spectrum disorder, and Cornelia de Lange Syndrome (CdLS), who was admitted to the ED with cardiac arrest. Resuscitative efforts were unsuccessful. The autopsy revealed an isolated right ventricular non-compaction. Methods The non-compaction of the ventricular myocardium is a type of cardiomyopathy caused by aberrant embryogenesis, often presenting with other congenital cardiac defects, especially in syndromic patients. Such is the case with Cornelia de Lange Syndrome, in which multiple cardiac anomalies are commonly seen. However, only a few cases of ventricular non-compaction were reported for patients with CdLS. To our knowledge, this is the first case of CdLS with death attributed to the isolated right ventricular non-compaction cardiomyopathy. Results CdLS is characterized by intellectual disability, distinctive facial features, growth retardation, hirsutism, and malformation of multiple organ systems. In general, ventricular non-compaction is defined by the persistence of deep intertrabecular recesses that communicate with both the ventricular cavity and the coronary circulation. The two main diagnostic criteria include the absence of well-formed papillary muscles and more than 50% penetration of invaginated endocardial recesses toward the epicardial surface. Additional features include the presence of staghorn shaped endocardial recesses, endomyocardial thickening, and endocardial fibrosis. Clinical diagnosis is based on ECG, echocardiography, and ventricular angiography. Magnetic resonance imaging is also helpful in providing a good correlation with echocardiogram for localization and the extent of non-compaction. Conclusion In the general population, the non-compaction involves the left ventricle predominantly. The prevalence of iRVNC remains underestimated, and although echocardiography can aid in the diagnosis, the morphological assessment of RV continues to be difficult and challenging. Pathologists should be aware of non-compaction as a cause of sudden cardiac death in syndromic and non-syndromic patients when performing autopsies.

scholarly journals Cornelia de Lange Syndrome: What Every Otolaryngologist should Know

2017 ◽  
Vol 96 (8) ◽  
pp. E6-E9
Author(s):  
Michael J. Eliason ◽  
Jonathan M. Melzer ◽  
Thomas Q. Gallagher
Keyword(s):  
Multidisciplinary Approach ◽  
Failure To Thrive ◽  
Multiple Organ ◽  
Support Staff ◽  
Cornelia De Lange Syndrome ◽  
Pediatric Otolaryngology ◽  
Mixed Hearing Loss ◽  
Organ Systems ◽  
Pediatric Pulmonology ◽  
Cornelia De Lange

Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.

scholarly journals Developmental defects in multiple organ systems in a mouse model of Cornelia de Lange Syndrome

2006 ◽  
Vol 295 (1) ◽  
pp. 352
Author(s):  
Shimako Kawauchi ◽  
Rosaysela Santos ◽  
Martha Lopez-Burks ◽  
Abigail Chua ◽  
Leonard M. Kitzes ◽  
...  
Keyword(s):  
Mouse Model ◽  
Multiple Organ ◽  
Cornelia De Lange Syndrome ◽  
Developmental Defects ◽  
Organ Systems ◽  
Cornelia De Lange

Abstract 12563: Retrospective Analysis of Cardiovascular Events With the Use of Immune Checkpoint Inhibitors

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Tushar Tarun ◽  
Brian P Bostick ◽  
Deepa Baswaraj ◽  
Nishchayjit Basra ◽  
Meeshal Khan ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Retrospective Analysis ◽  
Immune Checkpoint ◽  
Immune Checkpoint Inhibitors ◽  
Checkpoint Inhibitors ◽  
Multiple Organ ◽  
Fulminant Myocarditis ◽  
Organ Systems ◽  
History Of

Introduction: Immune checkpoint inhibitors have emerged as a promising, novel therapy for multiple malignancies. Immune-related adverse reactions pose a serious concern with use of these agents and reportedly involve multiple organ systems, notably cardiotoxicity. Early identification and management of these adverse events is essential in the prevention of morbidity and mortality. Hypothesis: Immune checkpoint inhibitors cause multiple cardiotoxic effects, and patients with prior cardiac history have a higher likelihood of cardiotoxicity. Methods: 1. A retrospective analysis of 150 patients was performed who had received immunotherapy with either the cytotoxic T lymphocyte associated antigen 4 inhibitors (CTLA4) or with the programmed cell death inhibitors (PD1) or programmed death-ligand 1 (PD-L1) inhibitors for a period of two years at a Tertiary health Care from 7/1/2016-6/30/2018. 2. Patients' cardiac diagnoses prior to the initiation of therapy were noted and included, including history of heart failure, coronary artery disease, atrial fibrillation, and sudden cardiac arrest. 3. Patients’ clinic visits and hospitalizations with admitting and discharge diagnosis, electrocardiogram, echocardiogram, troponin T, and NT-proBNP were reviewed. Results: 6% of patients had new onset heart failure (both preserved and reduced), 1.3% had evidence of myocardial infarction, 2% had new atrial fibrillation with rapid ventricular rate, and 0.6% had fulminant myocarditis. Of patients with new cardiac events, 60% had a history of cardiac disease, which was significantly higher than in patients without (p< 0.05). There were no age or sex differences between the groups with and without cardiotoxicity. Conclusion: Immunotherapy with immune checkpoint inhibitors have broadened the horizon for treatment of multiple solid and hematological malignancies. Nonetheless, new adverse effects on multiple organ systems, specifically cardiac involvement, occur with these therapies, which are important and potentially detrimental toxicities. Patients with a history of prior cardiovascular disease have higher likelihood to develop cardiotoxicity.

First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia

2019 ◽  
Vol 72 (8) ◽  
pp. 558-561 ◽  
Author(s):  
Grazia Fazio ◽  
Valentina Massa ◽  
Andrea Grioni ◽  
Vojtech Bystry ◽  
Silvia Rigamonti ◽  
...  
Keyword(s):  
Paediatric Patient ◽  
Acute Lymphoblastic Leukaemia ◽  
Lymphoblastic Leukaemia ◽  
Genetic Disorder ◽  
Premature Stop Codon ◽  
Cornelia De Lange Syndrome ◽  
Sequencing Analysis ◽  
First Case ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. Germline mutations of cohesin complex genes SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 have been identified in CdLS as well as somatic mutations in myeloid disorders. We describe the first case of a paediatric patient with CdLS with B-cell precursor Acute Lymphoblastic Leukaemia (ALL). The patient did not show any unusual cytogenetic abnormality, and he was enrolled into the high risk arm of AIEOP-BFM ALL2009 protocol because of slow early response, but 3 years after discontinuation, he experienced an ALL relapse. We identified a heterozygous mutation in exon 46 of NIPBL, causing frameshift and a premature stop codon (RNA-Targeted Next generation Sequencing Analysis). The analysis of the family indicated a de novo origin of this previously not reported deleterious variant. As for somatic cohesin mutations in acute myeloid leukaemia, also this ALL case was not affected by aneuploidy, thus suggesting a major impact of the non-canonical role of NIPBL in gene regulation. A potential biological role of NIPBL in leukaemia has still to be dissected.

Heterozygous Complete NIPBL Gene Deletion in Cornelia de Lange Syndrome: First Case Report from India

2016 ◽  
Vol 16 (1-2) ◽  
pp. 61-69 ◽  
Author(s):  
Shailesh Bajaj ◽  
Sheela Nampoothiri ◽  
Dhanya Yesodharan ◽  
Prakash Gambhir ◽  
Suvidya Ranade
Keyword(s):  
Case Report ◽  
Gene Deletion ◽  
Cornelia De Lange Syndrome ◽  
First Case ◽  
Cornelia De Lange

scholarly journals Correlation of lateral placental location with development of preeclampsia

2020 ◽  
Vol 9 (3) ◽  
pp. 1017
Author(s):  
Anjali Gupta ◽  
Priyanka Bansal ◽  
Jyotsna Sen ◽  
Savita Rani Singhal
Keyword(s):  
Prospective Observational Study ◽  
Previous History ◽  
Antenatal Clinic ◽  
Severe Anaemia ◽  
Multiple Organ ◽  
Clinical Syndrome ◽  
Chronic Hypertension ◽  
Singleton Pregnancy ◽  
Organ Systems ◽  
History Of

Background: Preeclampsia is a complex clinical syndrome which involves multiple organ systems and remains the principle cause of maternal and perinatal morbidity and mortality. Preeclampsia is a disease of trophoblastic tissue. Placental abnormality is one of the initial events in patients who are destined to develop pregnancy induced hypertension subsequently. Objective of this study was to evaluate the association of laterally located placenta on ultrasound with development of preeclampsia.Methods: This prospective observational study was conducted on 200 antenatal women with singleton pregnancy at 18-24 weeks of gestation who attended antenatal clinic of obstetrics and gynaecology, PGIMS Rohtak from October 2017 to October 2018. Detailed antenatal transabdominal ultrasound along with placental location was done between 18-24 weeks of gestation in women who fitted into inclusion criteria. All the antenatal women belonged to 18-24 weeks of gestation were included in the study except those women with chronic hypertension, diabetes mellitus, renal disease, severe anaemia, thyrotoxicosis, low lying placenta, previous history of preeclampsia or eclampsia.Results: Out of 200 antenatal women, 84 had lateral placenta while 116 had central placenta. Out of these 84 women who had lateral placenta, 55 women (65.5%) developed preeclampsia and out of 116 (58%) women who had central placenta, 28 women (24.1%) developed preeclampsia.Conclusions: From the above study, we concluded that women with laterally located placenta by ultrasound at 18-24 weeks of gestation have greater risk of developing preeclampsia.

scholarly journals Multiple Organ System Defects and Transcriptional Dysregulation in the Nipbl+/− Mouse, a Model of Cornelia de Lange Syndrome

PLoS Genetics ◽  
2009 ◽  
Vol 5 (9) ◽  
pp. e1000650 ◽  
Author(s):  
Shimako Kawauchi ◽  
Anne L. Calof ◽  
Rosaysela Santos ◽  
Martha E. Lopez-Burks ◽  
Clint M. Young ◽  
...  
Keyword(s):  
Multiple Organ ◽  
Organ System ◽  
Cornelia De Lange Syndrome ◽  
Multiple Organ System ◽  
Transcriptional Dysregulation ◽  
Cornelia De Lange

scholarly journals Effect of Prior History of Dementia and a Diagnosis of COVID-19 on Delirium in the ICU

2020 ◽  
Vol 3 ◽  
Author(s):  
Amira Kupty ◽  
Fen-Lei Chang
Keyword(s):  
Retrospective Chart Review ◽  
Multiple Organ ◽  
Prior History ◽  
Organ Systems ◽  
Increased Risk ◽  
History Of ◽  
Recent Diagnosis ◽  
Potential Factors ◽  
Icu Delirium ◽  
Severity Of Dementia

Background: Delirium occurred in nearly two out of every three patients in the ICU from prior studies. It is associated with poor health outcomes, including long-term cognitive and motor decline, increased risk of dementia, and increased mortality. In the context of COVID-19, patients are more likely to develop delirium due to the severity of the illness involving multiple organ systems. Our study evaluates factors contributing to the occurrence of delirium in the ICU for patients with or without a history of dementia and with or without a recent diagnosis of COVID-19.  Methods: We performed a retrospective chart review of ICU patients in Fort Wayne, IN from January through the end of June of 2020. Patients were grouped by whether they developed delirium or not and whether they had pre-existing dementia. We recorded age, sex, race, BMI, level of education, high risk medications, comorbidities, enteric/NPO feeding, mechanical ventilation, mobility, and lab results including CBC and BMP at the onset of delirium. Additionally, we included severity of delirium, length of stay, functional status at time of discharge, and COVID-19 status.   Results: We were unable to collect data at the time. However, we hypothesized that the incidence and severity of ICU delirium is associated with the severity of dementia and COVID status, among other factors.  Potential Impact: This study can shed light on the contribution of dementia history to ICU delirium and potential factors contributing to delirium incidence and severity. The COVID pandemic offers opportunities to differentiate effects of neurological (dementia) versus non-neurological factors (respiratory, renal, cardiovascular, and metabolic) on ICU delirium. 

Atrioventricular septal defect in a case of Shwachman–Diamond syndrome

2013 ◽  
Vol 24 (3) ◽  
pp. 549-551
Author(s):  
Laurianne Le Gloan ◽  
Nicolas Blin ◽  
Jean-Marc Langlard
Keyword(s):  
Bone Marrow ◽  
Dilated Cardiomyopathy ◽  
Septal Defect ◽  
Bone Marrow Failure ◽  
Atrioventricular Septal Defect ◽  
Multiple Organ ◽  
Cancer Predisposition Syndrome ◽  
First Case ◽  
Organ Systems ◽  
Shwachman Diamond Syndrome

AbstractShwachman–Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman–Diamond syndrome.

Treatment-resistant cough: a rare manifestation of IgG4-related disease involving the larynx

2020 ◽  
Vol 13 (11) ◽  
pp. e237614
Author(s):  
Azfar Shahid Syed ◽  
Rhonda E Colombo ◽  
Bakhtiar S Syed ◽  
Peter M Henning
Keyword(s):  
Multiple Organ ◽  
Antibody Treatment ◽  
Igg4 Related Disease ◽  
Organ Systems ◽  
Airway Symptoms ◽  
Rare Manifestation ◽  
Usual Therapy ◽  
Monoclonal Antibody Treatment ◽  
History Of ◽  
Anti Cd20

IgG4-related autoimmune diseases (IgG4 RD) are a relatively recently recognised group of disease processes that can affect multiple organ systems and result in protean symptoms. Here, we present a rare case of a 69-year-old man with a history of IgG4 RD affecting his lacrimal gland and pancreas who developed symptoms of severe laryngitis not responsive to usual therapy. He presented with non-productive cough, hoarseness and dyspnoea. Imaging findings suggestive of aortitis and laryngeal inflammation in the setting of his IgG4 RD history prompted treatment with rituximab, which resulted in resolution of his laryngeal symptoms. Subsequently, his cough returned and he required periodic rituximab infusions to stay symptom-free. IgG4 RD of the larynx is an uncommonly reported manifestation in literature. This disease is very responsive to anti-CD20 monoclonal antibody treatment. IgG4 RD should be considered in patients with airway symptoms that are especially refractory to usual therapy.

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